Antònia Ribes - Concepedia

Author

Antònia Ribes

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

A García Ribes, A RIBES, A Ribes, A. Garcia Ribes, A. García Ribes, A. RIBES, A. Ribes, Agnès Ribes, Antonia Ribes, Antonia Ribes Rubio

259

Publications

6.9K

Citations

H-Index

178

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Hospital Sant Joan de Déu Barcelona Hospital Clínic de Barcelona Consorci Institut D'Investigacions Biomediques August Pi I Sunyer Centro de Investigación Biomédica en Red

About

Antònia Ribes is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, biochemistry, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	35	76	3.4K
2	Natural Sciences	9	9	643
3	Health Sciences	7	7	435
4	Public Health	4	4	239
5	Social Sciences	3	3	55

Antònia Ribes

130

Publications

5.9K

Citations

H-Index

Page 1

	Year	Citations
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling, The American Journal of Human Genetics	2011	278
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, Pediatric Research NutritionMetabolic DisorderPediatric HematologyTreatment EfficacyHematology	2006	266
Clinical implementation of RNA sequencing for Mendelian disease diagnostics Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Genome Medicine	2022	184
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Journal of Medical Genetics	2013	159
Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct Christiane Busquets, B. Merinero, Ernst Christensen, Pediatric Research Aldehyde DehydrogenaseMetabolic DisorderGeneticsInherited Metabolic DiseasePathology	2000	132
Correlation of genotype and phenotype in glutaryl‐CoA dehydrogenase deficiency E. Christensen, Antònia Ribes, B. Merinero, Journal of Inherited Metabolic Disease	2004	130
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level Christina B. Pedersen, Steen Kølvraa, Agnete Kølvraa, Human Genetics Mendelian DisorderMissense VariationsGenetic DisorderMedicineGenetics	2008	116
Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase Morten J. Corydon, N. Gregersen, W. Lehnert, Pediatric Research Aldo-keto ReductaseAldehyde DehydrogenaseBiochemistryMedicineGenetics	1996	101
Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation Rafael Artuch, Gloria Brea‐Calvo, Paz Briones, Journal of the Neurological Sciences Coenzyme Q10 SupplementationNeurologyCerebellar AtaxiaNeuropathologyMedicine	2006	99
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (<i>cblC</i>) with homocystinuria (MMACHC) Eva Richard, Ana Jorge‐Finnigan, Judit García‐Villoria, Human Mutation GeneticsGenetic EpidemiologyHuman PolymorphismPathologyOxidative Stress	2009	95

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